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Chediak-Higashi syndrome.
Last reviewed: 12.07.2025
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Chediak-Higashi syndrome (CHS) is a disease with generalized cellular dysfunction. The inheritance pattern is autosomal recessive. It is caused by a defect in the Lyst protein. The characteristic feature of this syndrome is giant peroxidase-positive granules in neutrophils, eosinophils, monocytes of the peripheral blood and bone marrow, as well as in granulocyte precursor cells. Giant granules are also found in circulating lymphocytes, neuronal cytoplasm, and connective tissue cells of the perineural region.
Chédiak-Higashi syndrome is a rare disorder characterized by severe recurrent purulent infections, partial albinism, progressive neuropathy, bleeding tendency, development of lymphoproliferative syndrome, and the presence of giant granules in many cells, especially in peripheral blood leukocytes. Immunodeficiency in Chédiak-Higashi syndrome is primarily due to impaired phagocytosis in granulocytic and macrophage cells and is manifested by a tendency to purulent and fungal infections. Bleeding is associated with a defect in the release of fombocyte granules.
The first mention of the Chediak-Higashi syndrome dates back to 1943 {Beguez Cesar). Further descriptions are found in Steinbrinck 1948, Chediak 1952 and finally Higashi 1954.
[ Pathogenesis of Chediak-Higashi syndrome
The pathogenesis of the disease is associated with an abnormal structure of cell membranes, a disruption of the collecting microtubule system, and a defect in the interaction of the latter with lysosome membranes. Most clinical manifestations can be explained by an abnormal distribution of lysosomal enzymes. The frequency and severity of pyogenic infections are due to a decrease in the activity of oxygen metabolism and intracellular digestion of microbes in phagocytes due to a delay and inconsistent release of hydrolytic lysosomal enzymes from giant granules into phagosomes. In addition, patients have reduced activity of natural killers and antibody-dependent cytotoxicity of lymphocytes. The disease is classified as a primary immunodeficiency.
Symptoms of Chediak-Higashi syndrome
Clinical manifestations of Chediak-Higashi syndrome are recurrent pyogenic infections, characterized by partial albinism of hair, skin and eyes, photophobia. Soon after birth, a torpid phase of the disease occurs, associated with an anomaly in the formation of antibodies to the Epstein-Barr virus. Clinically, secondary hemophagocytic syndrome develops against the background of a bacterial or viral infection; fever, pancytopenia with hemorrhagic syndrome, lymphadenopathy, hepatosplenomegaly, neurological symptoms - episodes of seizures, impaired sensitivity, paresis, cerebellar disorders, mental retardation. The prognosis is unfavorable.
Diagnosis of Chediak-Higashi syndrome
The diagnosis of Chédiak-Higashi syndrome is based on the detection of characteristic giant granules in neutrophils, eosinophils, and other granule-containing cells in a peripheral blood smear. A bone marrow smear reveals giant inclusions in leukocyte precursor cells that are peroxidase-positive and contain lysosomal enzymes, indicating that these are giant lysosomes or, in the case of melanocytes, giant melanosomes.
Diagnosis of Chediak-Higashi syndrome
Treatment of Chediak-Higashi syndrome
In the treatment of Chediak-Higashi syndrome, symptomatic measures are taken, skin and eyes are protected from insolation. In the treatment of infectious episodes - a combination of broad-spectrum antibiotics. In the development of hemophagocytosis, polychemotherapy is indicated with the inclusion of glucocorticosteroids (mainly dexamethasone), vincristine, etoposide, endolumbar injections of methotrexate, replacement therapy with blood components. The only radical method of treatment, as with many other primary immunodeficiencies, is allogeneic bone marrow transplantation.
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